U.S. flag

An official website of the United States government

NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys) AND Nemaline myopathy 6

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 18, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003083790.2

Allele description [Variation Report for NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)]

NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)

Gene:
KBTBD13:kelch repeat and BTB domain containing 13 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.31
Genomic location:
Preferred name:
NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)
HGVS:
  • NC_000015.10:g.65077840A>G
  • NG_021411.1:g.6025A>G
  • NM_001101362.3:c.1025A>GMANE SELECT
  • NP_001094832.1:p.Tyr342Cys
  • NP_001094832.1:p.Tyr342Cys
  • LRG_682t1:c.1025A>G
  • LRG_682:g.6025A>G
  • LRG_682p1:p.Tyr342Cys
  • NC_000015.9:g.65370178A>G
  • NM_001101362.2:c.1025A>G
Protein change:
Y342C
Molecular consequence:
  • NM_001101362.3:c.1025A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nemaline myopathy 6 (NEM6)
Synonyms:
Nemaline myopathy 6, autosomal dominant
Identifiers:
MONDO: MONDO:0012237; MedGen: C1836472; Orphanet: 171439; OMIM: 609273

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003466261Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 18, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV003466261.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with KBTBD13-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 342 of the KBTBD13 protein (p.Tyr342Cys).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024